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Article

Systemic involvement in TREX1-associated familial chilblain lupus.

Journal of the American Academy of Dermatology - 1 Oct 2013

Günther Claudia, Hillebrand Matthias, Brunk Julia, Lee-Kirsch Min Ae

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Identifiers

PMID: 24034389
DOI: 10.1016/j.jaad.2013.04.020

Genes

TREX1

Provenance

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Related research

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Systemic involvement in TREX1-associated familial chilblain lupus.PMID 24034389Read ↗

A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.Semantic proximity Read ↗

Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.Semantic proximity Read ↗

Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family membersSemantic proximity Read ↗

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.Semantic proximity Read ↗

Clinical heterogeneity among a three-generation Japanese family with D18N TREX1 mutation for Aicardi-Goutières syndrome / familial chilblain lupusSemantic proximity Read ↗

Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies?Semantic proximity Read ↗

Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1).Semantic proximity Read ↗

Human disease phenotypes associated with mutations in TREX1.Semantic proximity Read ↗

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.Semantic proximity Read ↗

Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome.Semantic proximity Read ↗

Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndromeSemantic proximity Read ↗

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.Semantic proximity Read ↗

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